Submissions for variant NM_000335.5(SCN5A):c.3147C>T (p.Ile1049=)

gnomAD frequency: 0.00004  dbSNP: rs867787484

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001655621	SCV001008162	likely benign	not provided	2025-01-27	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV001842533	SCV001354346	likely benign	Cardiac arrhythmia	2019-11-24	criteria provided, single submitter	clinical testing
GeneDx	RCV001655621	SCV001868901	benign	not provided	2015-09-28	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002319979	SCV002610423	likely benign	Cardiovascular phenotype	2018-07-23	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV003150364	SCV003838883	likely benign	Cardiomyopathy	2021-09-15	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001655621	SCV004563460	likely benign	not provided	2024-06-18	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV001842533	SCV004831424	likely benign	Cardiac arrhythmia	2024-09-27	criteria provided, single submitter	clinical testing